### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FTO) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "FTO" "FTO alpha-ketoglutarate dependent dioxygenase" "16" "q12.2" "unknown" "NG_012969.1" "UD_144412635525" "" "" "" "1" "24678" "79068" "610966" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2020-12-22 14:57:24" "" "" "00005" "2021-08-29 14:24:10" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000079" "FTO" "FTO, alpha-ketoglutarate dependent dioxygenase" "001" "NM_001080432.2" "" "NP_001073901.1" "" "" "" "-222" "4070" "1518" "53703963" "54114467" "00001" "2020-12-22 14:58:42" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00048" "-" "Obesity" "" "" "" "" "" "00001" "2020-12-22 14:56:53" "" "" "00072" "MetS" "metabolic syndrome" "AD" "605552" "" "" "" "00001" "2021-02-25 09:26:06" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "FTO" "00048" "FTO" "00072" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Remarks_Non_Public}}" "{{Individual/Origin/Geographic}}" "{{Individual/Origin/Ethnic}}" "{{Individual/Origin/Population}}" "{{Individual/Gender}}" "00000296" "" "" "" "1" "" "00002" "{PMID:Y D Apalasamy et al. (2012):22911346}" "" "" "Malaysia" "" "" "" "00000462" "" "" "" "1" "" "00004" "{PMID:Siti Norsyuhada Roffeei et al.(2014):24624915}" "" "" "Malaysia" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00000296" "00048" "00000462" "00072" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00048, 00072 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000311" "00000296" "1" "00002" "00002" "2020-12-22 16:07:39" "" "" "?" "DNA" "0000000505" "00000462" "1" "00004" "00004" "2021-02-28 10:08:35" "" "" "?" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000000311" "FTO" "0000000505" "FTO" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 31 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/dbSNP}}" "0000001409" "0" "90" "16" "53757741" "53757741" "subst" "0" "00002" "FTO_000001" "g.53757741C>A" "61/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs1077128}" "" "" "rs1077128" "0000001410" "0" "90" "16" "53771053" "53771053" "subst" "0" "00002" "FTO_000002" "g.53771053T>A" "56/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs10852521}" "" "" "rs10852521" "0000001411" "0" "90" "16" "53816167" "53816167" "subst" "0" "00002" "FTO_000003" "g.53816167G>A" "28/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs11075994}" "" "" "rs11075994" "0000001412" "0" "90" "16" "53775335" "53775335" "subst" "0" "00002" "FTO_000004" "g.53775335G>A" "65/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs1121980}" "" "" "rs1121980" "0000001413" "0" "90" "16" "53811575" "53811575" "subst" "0" "00002" "FTO_000005" "g.53811575C>A" "35/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs11642841}" "" "" "rs11642841" "0000001414" "0" "90" "16" "53757886" "53757886" "subst" "0" "00002" "FTO_000006" "g.53757886G>A" "75/185" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs11643744}" "" "" "rs11643744" "0000001415" "0" "90" "16" "53761724" "53761724" "subst" "0" "00002" "FTO_000007" "g.53761724A>G" "62/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs13334933}" "" "" "rs13334933" "0000001416" "0" "90" "16" "53767042" "53767042" "subst" "0" "00002" "FTO_000008" "g.53767042T>C" "61/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs1421085}, {ClinVar:217824}" "" "" "rs1421085" "0000001417" "0" "90" "16" "53816258" "53816258" "subst" "0" "00002" "FTO_000009" "g.53816258A>C" "68/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs1421090}" "" "" "rs1421090" "0000001418" "0" "90" "16" "53769662" "53769662" "subst" "0" "00002" "FTO_000010" "g.53769662T>A" "61/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs1558902}" "" "" "rs1558902" "0000001419" "0" "90" "16" "53778612" "53778612" "subst" "0" "00002" "FTO_000011" "g.53778612A>G" "24/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs16945088}" "" "" "rs16945088" "0000001420" "0" "90" "16" "53763145" "53763145" "subst" "0" "00002" "FTO_000012" "g.53763145G>A" "64/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs16952517}" "" "" "rs16952517" "0000001421" "0" "90" "16" "53773586" "53773586" "subst" "0" "00002" "FTO_000013" "g.53773586C>G" "46/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs16952522}" "" "" "rs16952522" "0000001422" "0" "90" "16" "53810667" "53810667" "subst" "0" "00002" "FTO_000014" "g.53810667G>A" "30/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs17218700}" "" "" "rs17218700" "0000001423" "0" "90" "16" "53773852" "53773852" "subst" "0" "00002" "FTO_000015" "g.53773852A>C" "62/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs17817288}" "" "" "rs17817288" "0000001424" "0" "90" "16" "53814649" "53814649" "subst" "0" "00002" "FTO_000016" "g.53814649A>G" "33/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs1861867}" "" "" "rs1861867" "0000001425" "0" "90" "16" "53784548" "53784548" "subst" "0" "00002" "FTO_000017" "g.53784548G>T" "61/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs3751812}" "" "" "rs3751812" "0000001426" "0" "90" "16" "53763653" "53763653" "subst" "0" "00002" "FTO_000018" "g.53763653A>C" "32/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs4784323}" "" "" "rs4784323" "0000001427" "0" "90" "16" "53763606" "53763606" "subst" "0" "00002" "FTO_000019" "g.53763606T>C" "50/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs6499643}" "" "" "rs6499643" "0000001428" "0" "90" "16" "53759010" "53759010" "subst" "0" "00002" "FTO_000020" "g.53759010A>G" "60/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs7186521}" "" "" "rs7186521" "0000001429" "0" "90" "16" "53794840" "53794840" "subst" "0" "00002" "FTO_000021" "g.53794840A>G" "33/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs7190492}" "" "" "rs7190492" "0000001430" "0" "90" "16" "54134326" "54134326" "subst" "0" "00002" "FTO_000022" "g.54134326A>C" "62/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs7191513}" "c.1427+22502A>C" "" "rs7191513" "0000001431" "0" "90" "16" "53799693" "53799693" "subst" "0" "00002" "FTO_000023" "g.53799693T>A" "70/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs7204609}" "" "" "rs7204609" "0000001432" "0" "90" "16" "53763996" "53763996" "subst" "0" "00002" "FTO_000024" "g.53763996C>G" "62/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs7206790}" "" "" "rs7206790" "0000001433" "0" "90" "16" "53782363" "53782363" "subst" "0" "00002" "FTO_000025" "g.53782363C>A" "61/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs8050136}" "" "" "rs8050136" "0000001434" "0" "90" "16" "53782926" "53782926" "subst" "0" "00002" "FTO_000026" "g.53782926G>A" "60/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs9935401}" "" "" "rs9935401" "0000001435" "0" "90" "16" "53786615" "53786615" "subst" "0" "00002" "FTO_000027" "g.53786615T>A" "60/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs9939609}" "" "" "rs9939609" "0000001436" "0" "90" "16" "53766656" "53766656" "subst" "0" "00002" "FTO_000028" "g.53766656G>A" "65/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs9939973}" "" "" "rs9939973" "0000001437" "0" "90" "16" "53779455" "53779455" "subst" "0" "00002" "FTO_000029" "g.53779455T>A" "60/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs17817449}" "" "" "rs17817449" "0000001438" "0" "90" "16" "53837894" "53837894" "subst" "0" "00002" "FTO_000030" "g.53837894T>G" "57/158" "{PMID:Y D Apalasamy et al. (2012):22911346}, {dbSNP:rs17818902}" "" "" "rs17818902" "0000002216" "0" "90" "16" "53786615" "53786615" "subst" "0" "00004" "FTO_000027" "g.53786615T>A" "" "{PMID:Siti Norsyuhada Roffeei et al.(2014):24624915}" "" "" "rs9939609" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes FTO ## Count = 31 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Published_as}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/VariantOnTranscript}}" "0000001409" "00000079" "90" "46" "-52399" "46" "-52399" "c.46-52399C>A" "" "p.(=)" "r.(=)" "" "" "" "0000001410" "00000079" "90" "46" "-39087" "46" "-39087" "c.46-39087T>A" "" "p.(=)" "r.(=)" "" "" "" "0000001411" "00000079" "90" "123" "5950" "123" "5950" "c.123+5950G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001412" "00000079" "90" "46" "-34805" "46" "-34805" "c.46-34805G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001413" "00000079" "90" "123" "1358" "123" "1358" "c.123+1358C>A" "" "p.(=)" "r.(=)" "" "" "" "0000001414" "00000079" "90" "46" "-52254" "46" "-52254" "c.46-52254G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001415" "00000079" "90" "46" "-48416" "46" "-48416" "c.46-48416A>G" "" "p.(=)" "r.(=)" "" "" "" "0000001416" "00000079" "90" "46" "-43098" "46" "-43098" "c.46-43098T>C" "" "p.(=)" "r.(=)" "" "" "{ClinVar:217824}" "0000001417" "00000079" "90" "123" "6041" "123" "6041" "c.123+6041A>C" "" "p.(=)" "r.(=)" "" "" "" "0000001418" "00000079" "90" "46" "-40478" "46" "-40478" "c.46-40478T>A" "" "p.(=)" "r.(=)" "" "" "" "0000001419" "00000079" "90" "46" "-31528" "46" "-31528" "c.46-31528A>G" "" "p.(=)" "r.(=)" "" "" "" "0000001420" "00000079" "90" "46" "-46995" "46" "-46995" "c.46-46995G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001421" "00000079" "90" "46" "-36554" "46" "-36554" "c.46-36554C>G" "" "p.(=)" "r.(=)" "" "" "" "0000001422" "00000079" "90" "123" "450" "123" "450" "c.123+450G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001423" "00000079" "90" "46" "-36288" "46" "-36288" "c.46-36288A>C" "" "p.(=)" "r.(=)" "" "" "" "0000001424" "00000079" "90" "123" "4432" "123" "4432" "c.123+4432A>G" "" "p.(=)" "r.(=)" "" "" "" "0000001425" "00000079" "90" "46" "-25592" "46" "-25592" "c.46-25592G>T" "" "p.(=)" "r.(=)" "" "" "" "0000001426" "00000079" "90" "46" "-46487" "46" "-46487" "c.46-46487A>C" "" "p.(=)" "r.(=)" "" "" "" "0000001427" "00000079" "90" "46" "-46534" "46" "-46534" "c.46-46534T>C" "" "p.(=)" "r.(=)" "" "" "" "0000001428" "00000079" "90" "46" "-51130" "46" "-51130" "c.46-51130A>G" "" "p.(=)" "r.(=)" "" "" "" "0000001429" "00000079" "90" "46" "-15300" "46" "-15300" "c.46-15300A>G" "" "p.(=)" "r.(=)" "" "" "" "0000001430" "00000079" "90" "23929" "0" "23929" "0" "c.*22411A>C" "" "p.(=)" "r.(=)" "" "" "" "0000001431" "00000079" "90" "46" "-10447" "46" "-10447" "c.46-10447T>A" "" "p.(=)" "r.(=)" "" "" "" "0000001432" "00000079" "90" "46" "-46144" "46" "-46144" "c.46-46144C>G" "" "p.(=)" "r.(=)" "" "" "" "0000001433" "00000079" "90" "46" "-27777" "46" "-27777" "c.46-27777C>A" "" "p.(=)" "r.(=)" "" "" "" "0000001434" "00000079" "90" "46" "-27214" "46" "-27214" "c.46-27214G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001435" "00000079" "90" "46" "-23525" "46" "-23525" "c.46-23525T>A" "" "p.(=)" "r.(=)" "" "" "" "0000001436" "00000079" "90" "46" "-43484" "46" "-43484" "c.46-43484G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001437" "00000079" "90" "46" "-30685" "46" "-30685" "c.46-30685T>A" "" "p.(=)" "r.(=)" "" "" "" "0000001438" "00000079" "90" "752" "-6261" "752" "-6261" "c.752-6261T>G" "" "p.(=)" "r.(=)" "" "" "" "0000002216" "00000079" "90" "46" "-23525" "46" "-23525" "c.46-23525T>A" "" "p.(=)" "r.(=)" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 31 "{{screeningid}}" "{{variantid}}" "0000000311" "0000001409" "0000000311" "0000001410" "0000000311" "0000001411" "0000000311" "0000001412" "0000000311" "0000001413" "0000000311" "0000001414" "0000000311" "0000001415" "0000000311" "0000001416" "0000000311" "0000001417" "0000000311" "0000001418" "0000000311" "0000001419" "0000000311" "0000001420" "0000000311" "0000001421" "0000000311" "0000001422" "0000000311" "0000001423" "0000000311" "0000001424" "0000000311" "0000001425" "0000000311" "0000001426" "0000000311" "0000001427" "0000000311" "0000001428" "0000000311" "0000001429" "0000000311" "0000001430" "0000000311" "0000001431" "0000000311" "0000001432" "0000000311" "0000001433" "0000000311" "0000001434" "0000000311" "0000001435" "0000000311" "0000001436" "0000000311" "0000001437" "0000000311" "0000001438" "0000000505" "0000002216"